家族性胸部大動脈瘤・解離

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His)	TGFBR1	Likely pathogenic	9	101909983	101909983	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)	TGFBR1	Likely pathogenic	9	101907101	101907101	T	C	criteria provided, single submitter	ClinGen:CA374231501
Duplication	NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup)	TGFBR1	Pathogenic	9	101900198	101900199	T	TTGG	criteria provided, single submitter	ClinGen:CA658797254
single nucleotide variant	NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter)	TGFBR1	Pathogenic	9	101891269	101891269	T	G	criteria provided, single submitter	ClinGen:CA374225763
single nucleotide variant	NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)	TGFBR1	Likely pathogenic	9	101900206	101900206	G	A	criteria provided, single submitter	ClinGen:CA374229530
single nucleotide variant	NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter)	TGFBR1	Pathogenic	9	101900347	101900347	G	T	criteria provided, single submitter	ClinGen:CA374230291
single nucleotide variant	NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter)	TGFBR1	Pathogenic	9	101900299	101900299	G	T	criteria provided, single submitter	ClinGen:CA374229855
single nucleotide variant	NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val)	TGFBR1	Likely pathogenic	9	101900246	101900246	A	T	criteria provided, single submitter	ClinGen:CA16618918
single nucleotide variant	NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)	TGFBR1	Pathogenic/Likely pathogenic	9	101900266	101900266	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612911
single nucleotide variant	NM_004612.4(TGFBR1):c.944A>G (p.His315Arg)	TGFBR1	Pathogenic	9	101904956	101904956	A	G	criteria provided, single submitter	ClinGen:CA16612814